Tehran University of Medical Sciences

Science Communicator Platform

Faculty Members have conducted research related to the Jam2 Variants Can Be More Common in Primary Familial Brain Calcification (Pfbc) Cases Than Those Appear; May Be Due to a Founder Mutation
Farzaneh Abbasi
Farzaneh Abbasi

Associate Professor of Pediatric Endocrinology & Metabolism

Department Pediatrics

School of Medicine

Childrens Medical Center

Growth and Development Research Center

Tehran University of Medical Sciences

All Documents
1. Early Onset Classic Isovaleric Aciduria Caused by Two Novel Ivd Variants Identified by Whole Exome Sequencing (Wes), Journal of Laboratory Medicine (2026)
2. Identification of a Novel Acadsb Variant for the Presymptomatic Diagnosis of 2-Methylbutyryl-Coa Dehydrogenase Deficiency Through Newborn Screening in Iran, Orphanet Journal of Rare Diseases (2026)
3. High Occurrence of a Missense Variant (C.471C>A) in the Fgf23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect, Human Mutation (2025)
4. Impact of Hematopoietic Stem Cell Transplantation on Growth Outcomes in Mucopolysaccharidosis: A Systematic Review, Clinical and Experimental Pediatrics (2025)
5. Investigating the Prevalence of Emotional-Behavioral Problems in Children With Type 1 Diabetes; [بررسی شیوع مشکلات عاطفی-رفتاری در کودکان مبتلا به دیابت تیپ یک], Tehran University Medical Journal (2025)
6. Genetic Variant Profiling of Neonatal Diabetes Mellitus in Iranian Patients: Unveiling 58 Distinct Variants in 14 Genes, Journal of Diabetes Investigation (2024)
7. Genetic Variant Profiling of Neonatal Diabetes Mellitus in Iranian Patients: Unveiling 58 Distinct Variants in 14 Genes, Journal of Diabetes Investigation (2024)
8. Lead Poisoning As a Differential Diagnosis in Pediatric Patients With Chronic Abdominal Pain: A Case–Control Study in Tehran-Iran, BMC Gastroenterology (2024)
9. Determination of Bone Density by Dexa Method Based on Bone Age and Its Comparison With Chronological Age in Chronic Patients, Mediterranean Journal of Rheumatology (2023)
10. Inborn Errors of Metabolism in Iran: First Report From Iran Metabolic Registry, Iranian Journal of Pediatrics (2023)
11. Comparison of Once-Daily Versus Twice-Daily Injection of Insulin Detemir in Children With Type 1 Diabetes Mellitus, Iranian Journal of Pediatrics (2022)
12. Early and Delayed Puberty Among Iranian Children With Obesity, Minerva Endocrinology (2022)
13. Investigating Genetic Mutations in a Large Cohort of Iranian Patients With Congenital Hyperinsulinism, JCRPE Journal of Clinical Research in Pediatric Endocrinology (2022)
14. Mesenchymal Stem Cell Transplantation in Newly Diagnosed Type-1 Diabetes Patients: A Phase I/Ii Randomized Placebo-Controlled Clinical Trial, Stem Cell Research and Therapy (2022)
15. Molecular and Clinical Characterization of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (Apeced) in Iranian Non-Jewish Patients: Report of Two Novel Aire Gene Pathogenic Variants, Orphanet Journal of Rare Diseases (2022)
16. Relationship Between a Near Melanocortin-4 Receptor Gene Variant and Puberty Timing in Children Is Vague Unlike Obesity, Journal of Diabetes and Metabolic Disorders (2022)
17. Evaluation of Patients Referred to Children's Medical Center Laboratory for Diagnosis of Mucopolysaccharidoses: Eight Years' Experience From Iran, Journal of Child Science (2021)
18. P.Gln318x and P.Val281leu As the Major Variants of Cyp21a2 Gene in Children With Idiopathic Premature Pubarche, International Journal of Endocrinology (2020)
19. A Case of H Syndrome With a Novel Mutation in Slc29a3, Meta Gene (2019)
20. Role of Vitamin D and Vitamin D Receptor Gene Polymorphisms on Residual Beta Cell Function in Children With Type 1 Diabetes Mellitus, Pharmacological Reports (2019)
21. Type 1 Diabetes Genetic Risk Score Discriminates Between Monogenic and Type 1 Diabetes in Children Diagnosed at the Age of <5 Years in the Iranian Population, Diabetic Medicine (2019)
22. A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes, Canadian Journal of Diabetes (2018)
23. Thyroid Function Tests in Critically Ill Children; Any Correlation With Disease Severity or Outcome?, Iranian Journal of Pediatrics (2018)
24. Assessment of Sexual Maturation Among Boys in Special Schools of Tehran, Iran, International Journal of Pediatrics (2017)
25. Comparison of Bone Mineral Density in Common Variable Immunodeficiency and X-Linked Agammaglobulinaemia Patients, Endocrine# Metabolic and Immune Disorders - Drug Targets (2017)
26. Comparison of Bone Mineral Density in Common Variable Immunodeficiency and X-Linked Agammaglobulinaemia Patients, Endocrine, Metabolic and Immune Disorders - Drug Targets (2017)
27. Indole-Based Derivatives Effect on Rats With Polycystic Ovary Syndrome, Journal of Pharmaceutical Investigation (2017)
28. Ptpn22 Single-Nucleotide Polymorphisms in Iranian Patients With Type 1 Diabetes Mellitus, Immunological Investigations (2017)
29. The Effect of Metformin As an Adjunct Therapy in Adolescents With Type 1 Diabetes, Journal of Clinical and Diagnostic Research (2017)
30. Assessment of Sexual Maturation Among Girls With Special Needs in Tehran, Iran, Iranian Journal of Pediatrics (2016)
31. Assessment of Vitamin D Status and Response to Vitamin D3 in Obese and Non-Obese Iranian Children, Journal of Tropical Pediatrics (2016)
32. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Three Cases From Iran, Journal of Pediatric Endocrinology and Metabolism (2016)
33. Inborn Errors of Metabolism-Clinical Findings and Laboratory Tests at the Children’S Medical Center, Tehran, Iran, Iranian Journal of Pediatrics (2016)
34. Molecular Investigation of Wfs1 Gene Exon 8 in Iranian Patients With Wolfram Syndrome, International Journal of Diabetes in Developing Countries (2016)
35. Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature, Journal of Pediatric Endocrinology and Metabolism (2015)
36. Insulin Independence After Fetal Liver-Derived Cell Suspension Allotransplantation in Patients With Type 1 Diabetes: A Pilot Study, Iranian Journal of Public Health (2015)
37. Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient With Extra Marker Chromosome 22, Acta Medica Iranica (2015)
38. Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family, Gene (2015)
39. Insulin Adherence in Patients With Diabetes: Risk Factors for Injection Omission, Primary Care Diabetes (2014)